F18S (p.Phe18Ser) variant of CLCN5 (P51795)
F18S (p.Phe18Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- gnomAD X-50042352-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.29
- MetaLR 0.60
- MetaSVM 0.06
- CADD 23.70
- PolyPhen-2 0.35
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available